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Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy
Rare copy number variants (CNVs) have been established as an important cause of various neurodevelopmental disorders, including intellectual disability (ID) and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. Here we present two siblings and their mother...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4169108/ https://ncbi.nlm.nih.gov/pubmed/23686817 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35946 |
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